Genomic coordinate 9:136,673,143
Here I present: “Berardinelli-Seip Lipodystrophy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (AGPAT2) 脂肪營養不良 icd10=E88.12
INTRODUCTION.
Berardinelli-Seip lipodystrophy, is an autosomal recessive disease characterized by a near absence of adipose tissue from birth or infancy and severe insulin’ resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia.
Berardinelli-Seip lipodystrophy is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin’ resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.
There is evidence that Berardinelli-Seip lipodystrophy type-1 is caused by homozygous or compound heterozygous mutation in the gene encoding 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2) on cytogenetic location 9q34.3 and genomic coordinate 9:136,673,143.
